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    Ubr1 ubiquitin protein ligase E3 component n-recognin 1 [ Mus musculus (house mouse) ]

    Gene ID: 22222, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Ubr1provided by MGI
    Official Full Name
    ubiquitin protein ligase E3 component n-recognin 1provided by MGI
    Primary source
    MGI:MGI:1277977
    See related
    Ensembl:ENSMUSG00000027272 AllianceGenome:MGI:1277977
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Summary
    Enables ubiquitin protein ligase activity. Involved in ubiquitin-dependent protein catabolic process via the N-end rule pathway. Acts upstream of or within ubiquitin-dependent protein catabolic process. Part of proteasome complex and ubiquitin ligase complex. Is expressed in several structures, including branchial arch; genitourinary system; limb bud; liver; and lung. Used to study Johanson-Blizzard syndrome. Human ortholog(s) of this gene implicated in Johanson-Blizzard syndrome and cardiovascular system disease. Orthologous to human UBR1 (ubiquitin protein ligase E3 component n-recognin 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in CNS E11.5 (RPKM 5.7), CNS E18 (RPKM 5.5) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Ubr1 in Genome Data Viewer
    Location:
    2 E5; 2 60.37 cM
    Exon count:
    48
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (120690753..120801246, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (120860272..120970760, complement)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene StAR related lipid transfer domain containing 9 Neighboring gene codanin 1 Neighboring gene tau tubulin kinase 2 Neighboring gene STARR-seq mESC enhancer starr_05516 Neighboring gene STARR-positive B cell enhancer ABC_E3396 Neighboring gene expressed sequence AV039307 Neighboring gene STARR-positive B cell enhancer ABC_E5971 Neighboring gene STARR-positive B cell enhancer ABC_E147 Neighboring gene transmembrane protein 62 Neighboring gene small nucleolar RNA, C/D box 3B, pseudogene 2 Neighboring gene cyclin D-type binding-protein 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Impaired neurogenesis and cardiovascular development in mice lacking the E3 ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway. An JY, et al. Proc Natl Acad Sci U S A, 2006 Apr 18. PMID 16606826, Free PMC Article
    2. Loss of Ubr1 promotes aneuploidy and accelerates B-cell lymphomagenesis in TLX1/HOX11-transgenic mice. Chen E, et al. Oncogene, 2006 Sep 21. PMID 16862188
    3. Behavioral characterization of mice lacking the ubiquitin ligase UBR1 of the N-end rule pathway. Balogh SA, et al. Genes Brain Behav, 2002 Nov. PMID 12882367
    4. An essential role of N-terminal arginylation in cardiovascular development. Kwon YT, et al. Science, 2002 Jul 5. PMID 12098698
    5. Synthetic heterovalent inhibitors targeting recognition E3 components of the N-end rule pathway. Lee MJ, et al. Proc Natl Acad Sci U S A, 2008 Jan 8. PMID 18162545, Free PMC Article

    See all (40) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification of Ubr1 as an amino acid sensor of steatosis in liver and muscle.
      Title: Identification of Ubr1 as an amino acid sensor of steatosis in liver and muscle.
    2. A STAT3-dependent E3 ubiquitin ligase, Ubr1, was responsible for rhodopsin degradation and was up-regulated in the inflamed SOCS3-deficient retinas.
      Title: Roles of STAT3/SOCS3 pathway in regulating the visual function and ubiquitin-proteasome-dependent degradation of rhodopsin during retinal inflammation.
    3. involved in learning and memory; behavioral characterizations of UBR1 knockout mice
      Title: Behavioral characterization of mice lacking the ubiquitin ligase UBR1 of the N-end rule pathway.
    4. UBR1-/-UBR2-/- embryos die at midgestation, with defects in neurogenesis and cardiovascular development.
      Title: Impaired neurogenesis and cardiovascular development in mice lacking the E3 ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway.
    5. TLX1/HOX11 overexpression and Ubr1 inactivation in promoting chromosome missegregation, permitting the accrual of additional chromosome losses and cytogenic abnormalities en route to malignancy
      Title: Loss of Ubr1 promotes aneuploidy and accelerates B-cell lymphomagenesis in TLX1/HOX11-transgenic mice.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (1)  1 citation

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables L-leucine binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables L-leucine binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin protein ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ubiquitin protein ligase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ubiquitin protein ligase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables ubiquitin-protein transferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ubiquitin-protein transferase activity IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in cellular response to L-leucine ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cellular response to L-leucine ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of TOR signaling ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of TOR signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein ubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in ubiquitin-dependent protein catabolic process via the N-end rule pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ubiquitin-dependent protein catabolic process via the N-end rule pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in ubiquitin-dependent protein catabolic process via the N-end rule pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of proteasome complex IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    part_of ubiquitin ligase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of ubiquitin ligase complex IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    E3 ubiquitin-protein ligase UBR1
    Names
    E3 alpha
    N-recognin-1
    RING-type E3 ubiquitin transferase UBR1
    ubiquitin-protein ligase E3-alpha-1
    ubiquitin-protein ligase E3-alpha-I
    ubiquitin-protein ligase e3 componen n-recognin
    NP_033487.2
    XP_006499227.1
    XP_011237742.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_009461.3 → NP_033487.2  E3 ubiquitin-protein ligase UBR1

      See identical proteins and their annotated locations for NP_033487.2

      Status: VALIDATED

      Source sequence(s)
      AL844548, AL935168
      Consensus CDS
      CCDS16628.1
      UniProtKB/Swiss-Prot
      A2AQ54, O70481, Q5BKR8, Q792M3, Q8BN40, Q8C5K3
      UniProtKB/TrEMBL
      Q2M4I1
      Related
      ENSMUSP00000028728.6, ENSMUST00000028728.6
      Conserved Domains (2) summary
      pfam02207
      Location:99 → 166
      zf-UBR; Putative zinc finger in N-recognin (UBR box)
      pfam02617
      Location:221 → 301
      ClpS; ATP-dependent Clp protease adaptor protein ClpS

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      120690753..120801246 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006499164.4 → XP_006499227.1  E3 ubiquitin-protein ligase UBR1 isoform X1

      UniProtKB/TrEMBL
      Q2M4I1
      Conserved Domains (4) summary
      cd00162
      Location:1101 → 1203
      RING_Ubox; RING-H2 finger (C3H2C3-type) [structural motif]
      pfam02207
      Location:98 → 166
      zf-UBR; Putative zinc finger in N-recognin (UBR box)
      pfam02617
      Location:221 → 301
      ClpS; ATP-dependent Clp protease adaptor protein ClpS
      cl17238
      Location:1097 → 1215
      RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain

    2. XM_011239440.4 → XP_011237742.1  E3 ubiquitin-protein ligase UBR1 isoform X2

      Conserved Domains (2) summary
      cd00162
      Location:333 → 435
      RING_Ubox; RING-H2 finger (C3H2C3-type) [structural motif]
      cl17238
      Location:329 → 447
      RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain

    RNA

    1. XR_004939522.1 RNA Sequence

    2. XR_003952081.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O70481.2 GenPept UniProtKB/Swiss-Prot:O70481

    Gene LinkOut

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